日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Basement membrane remodeling with fibroblast activation and cystatin C aggregation in cerebral vessels of hereditary cystatin C amyloid angiopathy

遗传性胱抑素C淀粉样血管病脑血管中基底膜重塑伴成纤维细胞活化和胱抑素C聚集

Snorradottir, Asbjorg Osk; Hafsteinsson, Hjalti Karl; Hansdottir, Klara; Ingthorsson, Saevar; Gudmundsson, Sigurdur Runar; Skodras, Angelos; Isaksson, Helgi J; Hakonarson, Hakon

N-Acetylcysteine for Hereditary Cystatin C Amyloid Angiopathy: A Nonrandomized Clinical Trial

N-乙酰半胱氨酸治疗遗传性胱抑素C淀粉样血管病:一项非随机临床试验

Snorradottir, Asbjorg Osk; Gutierrez-Uzquiza, Alvaro; Bragado, Paloma; March, Michael E; Kao, Charlly; Arkink, Enrico Bernardo; Jonsdottir, Solveig; Sigurdardottir, Arna; Isaksson, Helgi J; Mariasdóttir, Hekla Liv; Bjorgvinsdottir, Olga Yr; Kowal, Natalia M; Heimisdottir, Hugrun L; Sverrisdottir, Astros; Palsdottir, Astridur; Bjornsson, Hans Tomas; Hakonarson, Hakon

A pathological missense mutation in the deubiquitinase USP5 leads to insensitivity to pain.

去泛素化酶 USP5 中的致病性错义突变会导致痛觉丧失

Antunes Flavia T T, Gandini Maria A, Garcia-Caballero Agustin, Huang Sun, Ali Md Yousof, Gambeta Eder, Souza Ivana A, Harding Erika K, Ferron Laurent, Stray-Pedersen Asbjorg, Gadotti Vinicius M, Zamponi Gerald W

In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome

在维德曼-施泰纳综合征小鼠模型中,通过子宫内干预挽救神经功能障碍

Tinna Reynisdottir ,Kimberley J Anderson ,Katrin Möller ,Stefán Pétursson ,Andrew Brinn ,Katheryn P Franklin ,Juan Ouyang ,Asbjorg O Snorradottir ,Cathleen M Lutz ,Aamir R Zuberi ,Valerie B DeLeon ,Hans T Bjornsson

The historical background of hereditary cystatin C amyloid angiopathy: Genealogical, pathological, and clinical manifestations

遗传性胱抑素C淀粉样血管病的历史背景:家谱、病理和临床表现

Snorradottir, Asbjorg Osk; Hakonarson, Hakon; Palsdottir, Astridur

Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders

免疫基因缺陷是儿童非恶性淋巴增生性疾病的特征性表现。

Forbes, Lisa R; Eckstein, Olive S; Gulati, Nitya; Peckham-Gregory, Erin C; Ozuah, Nmazuo W; Lubega, Joseph; El-Mallawany, Nader K; Agrusa, Jennifer E; Poli, M Cecilia; Vogel, Tiphanie P; Chaimowitz, Natalia S; Rider, Nicholas L; Mace, Emily M; Orange, Jordan S; Caldwell, Jason W; Aldave-Becerra, Juan C; Jolles, Stephen; Saettini, Francesco; Chong, Hey J; Stray-Pedersen, Asbjorg; Heslop, Helen E; Kamdar, Kala Y; Rouce, R Helen; Muzny, Donna M; Jhangiani, Shalini N; Gibbs, Richard A; Coban-Akdemir, Zeynep H; Lupski, James R; McClain, Kenneth L; Allen, Carl E; Chinn, Ivan K

NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients

NAC 可阻断 HCCAA 患者细胞系统和皮肤中的胱抑素 C 淀粉样蛋白复合物聚集

Michael E March #, Alvaro Gutierrez-Uzquiza #, Asbjorg Osk Snorradottir, Leticia S Matsuoka, Noelia Fonseca Balvis, Thorgeir Gestsson, Kenny Nguyen, Patrick M A Sleiman, Charlly Kao, Helgi J Isaksson, Birkir Thor Bragason, Elias Olafsson, Astridur Palsdottir, Hakon Hakonarson

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

疾病相关的 CTNNBL1 突变通过降低核 AID 来损害体细胞超突变

Marcel Kuhny, Lisa R Forbes, Elif Çakan, Andrea Vega-Loza, Valentyna Kostiuk, Ravi K Dinesh, Salomé Glauzy, Asbjorg Stray-Pedersen, Ashley E Pezzi, I Celine Hanson, Alexander Vargas-Hernandez, Mina LuQuing Xu, Zeynep H Coban-Akdemir, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupsk

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

组蛋白乙酰转移酶复合物组分基因TRRAP的错义变异会导致自闭症和综合征型智力障碍

Cogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie M H F; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C; Zyskind, Jacob; Holla, Øystein L; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind L; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N; Dewan, Tammie; Coban Akdemir, Zeynep H; Telegrafi, Aida; Zackai, Elaine H; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G; Lowenstein, Dan; Posey, Jennifer E; Denommé-Pichon, Anne-Sophie; Férec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Séverine; Redon, Richard; Stessman, Holly A F; Nellaker, Christoffer; Yang, Yaping; Lupski, James R; Goldstein, David B; Eichler, Evan E; Bolduc, Francois; Bézieau, Stéphane; Küry, Sébastien; Campeau, Philippe M

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

NACC1基因中一种反复出现的新生变异会导致一种综合征,其特征为婴儿期癫痫、白内障和严重的生长发育迟缓。

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana